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Here in the US we celebrated Thanksgiving this past weekend. It’s a time of family, thanks, and giving. Most of us “gave” at the mall on Black Friday or online on Cyber Monday … but now it’s #GivingTuesday, an annual day where the world comes together to give.

November is MLD Foundation’s second busiest travel and meeting time … so much so that we have yet to decompress and summarize all that we have done. Your generous gifts are what enables us to work on your behalf!

We’ve Been Busy!

We’ll send out some summary postings over the next few weeks, but in the meantime, here are a few highlights of our last 60 days …

Teryn was an invited panelist to a Social Security Administration event on SSI Compassionate Allowances where she presented the case to add juvenile and adult MLD to the CAL … and also insight on how SSA can be more effective n supporting families.

Met with another Pharma company who detailed to us, for the first time, the details of their internal development work on MLD. That makes 3 companies who have active MLD projects plus at least two more we cannot name just yet.

Hosted a MLD Newborn Screening Summit in Philadelphia with some 40 experts attending to focus our collaborative efforts to get MLD newborn screening (NBS) going in the US and abroad. The lab test results for the proposed screen are looking very good but there is much to do to get this ready for population-wide public health implementation.

Met with a well respected and very knowledgable doctor/researcher who is anxious to pursue more MLD work … and is an active advisor/consultant for pharma and biotech investors.

Working to bring two more strains of MLD mice to the US from Germany. MLD Foundation brought the first strain to the US in 2011.

Continued our Compassion support for families … on the phone, in person in Philadelphia and Boston, and around the globe via email and social media. We’ve recently helped families get confirming diagnostics, make therapy decisions, connect with clinical resources, obtain wheelchair vans and other equipment, and have been a source of direct financial support when unexpected expenses have arisen.

Please remember to give on #GivingTuesday to support MLD Foundation! There are no salaries paid here – all donations go directly to Compassion support for families and to advance MLD Research and Awareness.

Like this:

A MLD mom recently asked about donating her son’s brain and other tissue to research after he passed. There is no more personal or profound donation that can be made to advance MLD research. This post is a lightly edited copy of my response to this special MLD mom …

It’s always difficult to talk about tissue donations. It’s a very sensitive and personal topic. Our desire at MLD Foundation is that you be informed and consider tissue donation … it is critical that researchers have access to MLD tissues, including brains and other organs, to better their basic science understanding and to focus and expedite their work toward therapies.

UMB Brain & Tissue Bank at the University of Maryland

We currently recommend the UMB Brain & Tissue Bank at the University of Maryland.
We have visited them several times over the years, met with and queried their staff, and know first hand they treat every sample with the greatest respect. They have been a primary national tissue bank for the NIH (National Institutes of Health) for over 15 years and allow access by non-NIH researchers from academic institutions and pharma companies so donations them them are very accessible.

They do all of their work behind the scenes and while they prefer the donation paperwork to be signed and placed on file in advance with them and your local care team, they can often work quickly if things suddenly take a turn for the worse and they need to move more quickly.

What does this cost? Can I have a normal memorial and viewing?

There is no cost to your family. Taking tissue samples does not affect your ability to have any form of traditional memorial ceremony or viewings.

Videos …

More questions?

We are happy to help you along in this process. MLD tissue, especially brain tissue, is very valuable. Don’t worry that you do not live in the Maryland area – they can arrange for the tissue samples to be taken in nearly any city across the US.

p.s. MLD Foundation is investigating using additional tissue banks, but the Univ. of MD is currently our primary choice for donations. Keeping as many samples as possible in one place as opposed to scattering them at multiple institutions makes the tissues a more accessible and valuable resource.

The first rule of blogging is to post good content on a regular basis. The second is to keep your posts short, to the point and to not mix multiple topics into one post. Oh boy, am I in trouble …
My 6th trip to DC this year ended reflecting at 35,000′ with a Crater Lake Hazelnut Espresso Vodka courtesy of gold status on Alaska Airlines as I flew non-stop back home to Portland Friday evening.

I
admit I was stoked because of so many good people, connections, meetings, and events that I had experienced over the past three days.

And then I connected to Alaska’s WiFi …

Before I tell you what I learned from the world below, let me share a few of the other highlights … each of which I will share much more about in coming posts.

13 Senate ofice meetings in one day

Jay Griessing of Biomarin set up and attended 14 Senate
office meetings and one House meeting with me … 13 Senate meetings on Wednesday alone! I have been to Senate offices many times over perhaps a decade – my prior max was 6 or 7 meetings. And better yet, because Congress is in recess (out campaigning) the two of us were very efficient as we meet with the staffers who do the real work on the Hill.

21st Century Cures is alive

We discussed 21st Century Cures, its history and what we hope to accomplish over the next few weeks during the lame duck Congressional session. The short update … there is a lot of enthusiasm on both the Senate and House side to get #CURESnow passed. It might be slimmed down a bit but we’ll take it.

Rare Policy

A missing voice was identified at 21st Century Cures strategic planning meeting held two weeks ago duringmy 5th trip to DC at the NORD Rare Disease Summit.
We need the voice of the patients, families, caregivers, and general public to push CURES to the finish line. I am about 24 hours away from launching a platform that lets this audience contact Congress with 1-click in a much more impactful way … and gives those of us managing these programs a lot more ability to build on these grass-roots networks. I spent three late nights last week communicating with a development team in India … and watching the Cubs historic win streamed to a small corner of my screen.

BIO Patient & Health Advocacy Summit

I again attended this annual gathering of advocacy and industry. The #BIOsummit2016 sessions and particularly the networking was exceptionally rich this year. BIO does great job of balancing the content and attendance so we all come away enriched and informed. I spent time with dozens of people from multiple stakeholder communities … advocacy, industry, policy, organizational leadership, consultants, communications, etc.

Airbnb

Ok , I’m adventuresome, frugal with MLD Foundation funds, and we’d reached our quota of room nights with Hilton family hotels to keep our status with them … so I made my first Airbnb reservation and stayed at a place described as Chic designer-rustic, 14th & U Neighborhood, Metro (if you sty there tell them Dean recommend you). A 3rd floor room, a tiny European style bathroom with a sideways sink, WiFi and great hosts. I’m no longer an Airbnb virgin.

And then …

One email subject line whisked me from this whirlwind activity, progress, and networking and reminded me of the reality of why I’m doing this … “Eden gets her wings”. Beth is not a MLD carrier and Eden was healthy by all accounts when she was adopted from Ethiopia by her single mother, Beth. 7-year old Eden was finally free from MLD, but no longer with us. Late infantile MLD starts to show its devastation around 18-24 months, just after Eden was brought to the US to live what was supposed to be a happy healthy life.

#FMLD
… which properly stands for Fighting MLD … but that’s not quite how I feel right now. ;(

I love what I do … and yet I hate the reasons I ever had to start doing it. MLD and Rare Disease are my passion and focus … but there are times where overall health and sometimes even bigger things are the concerns.

Today is Rare Disease Day. It’s an appropriate day to announce we have come one step closer to a MLD Newborn Screen!

The pilot study to test the newly developed MLD Newborn assay/technique on current newborn babies born in Washington state will be starting within the next three months once testing lab equipment is in place.

The MLD Foundation will continue to push forward until all newborns are tested for MLD. Thank you Dr. Michael Gelb for your tireless work to make MLD newborn screening a reality.‪

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Happy New Year! As we head out of the holiday season and into a new year, it is a time that we reflect on life, cherish family, and count our blessings for all that we hold close to our hearts. Holiday music has been playing everywhere you go for the past month; while I enjoy all of the holiday songs, one song in particular, “Grown-Up Christmas List”, profoundly speaks to me at this point in my life. The lyrics are:

“No more lives torn apart,

And wars would never start,

And time would heal all hearts.

And every one would have a friend,

And right would always win,

And love would never end

This is my grown-up Christmas list.

This is my only lifelong wish”

YES. With the commercialism of Christmas in today’s society, much of this gets lost in the shuffle. But for me, and for what my family has endured as a result of the devastating effects of MLD, my grown-up Christmas list goes far beyond gifts wrapped beautifully under a tree. For me, since MLD has been in our lives, the loss we and others have experienced glaringly exposes the lies of commercialized Christmas. Shiny presents under the tree do not address our hopes and dreams. What we want is life for our children, hope for future families receiving a diagnosis of MLD. My lifelong wish is to see a cure for MLD, so that no other child has to endure what my beautiful girl, Emily, has had to endure. So that the pain caused by MLD would be avoided, and so that families receiving an MLD diagnosis would not be faced with little to no options.

A few weeks ago, in mid-December, I had the privilege of attending a meeting organized by Dean & Teryn Suhr (MLD Foundation) with Dr. Alessandra Biffi and Dr. Florian Eichler at Mass General Hospital in Boston, MA. I came away from the meeting feeling like I had received a grown-up Christmas gift…two leading doctors/researchers investing and caring for OUR children and OUR rare disease. It was encouraging and refreshing. The goal of the meeting was to lay groundwork for future interaction; to discuss initiatives and action plans to make progress. [Dr. Biffi is on the MLD Foundation’s Medical and Scientific Advisory Board]

There is much to be done. Dean and Teryn are behind the scenes, pushing for good communication between those involved. Their involvement is a personal agenda that bears the weight of all of our hearts, collectively. They ultimately are fighting the MLD battle on the front lines for all of us. Dr. Eichler has been involved over the last 18 months creating a clinical & research community for ALD (adrenoleukodystrophy) called ALDConnect. The registry and community they created is a good prototype for what we can create for MLD patients to help advance research. Dr. Biffi and Dr. Eichler discussed what type of information would be helpful to obtain from MLD families. A similar patient-powered registry for MLD is in the final stages of debug by MLD Foundation (as a result of a federal grant like ALDConnect) and will be rolled out shortly. We, as the MLD Family, will become ultimately responsible in ensuring the success of information collected. A collection of information is vital for researchers to use in searching for a cure for MLD. We, as families, hold the KEY TO INFORMATION that is beyond valuable. It is my hope that we can harness our information and use it to its greatest potential.

In addition, we discussed the idea of Centers of Excellence, and what that could look like for MLD families. There is a tremendous need for knowledgeable and highly qualified centers for MLD patients and their families. Too often, our local doctors do not have the expertise or knowledge to adequately support MLD patients. With the help of a Center of Excellence, families would receive specialized care at a center, with support given to local medical teams.

Teryn’s work with developing a Newborn Screening Test for MLD was discussed. At this point a pilot study is being planned. The hope is that a 2016 pilot study will prove the test is reliable and credible. This would be HUGE!

It is very exciting to have Dr. Biffi now in the U.S. working on behalf of MLD. It is my hope that new interest will be sparked throughout the U.S. because of her presence here. As families who have been involved with Dr. Biffi’s gene therapy work in Italy have already experienced, I was greatly impressed by Dr. Biffi’s genuine concern for MLD and desire to make a difference. We, as MLD parents, obviously want to see research done on MLD because our children have been deeply affected by it. It is refreshing to see doctors with a heart for MLD born out of their own desire to make a difference.

At one point during our meeting we discussed the burden of responsiblity that many MLD families feel in paying it forward…helping others that will come after us even if our own children may not benefit. Dr. Biffi recognized that this has affected her very deeply in her own research and experience with MLD. She personally has experienced the selfless attitude of many families to do whatever it takes for the greater good, to make the world a better place in the future for MLD, even if we may not benefit immediately from it. I was touched by her emotion and recognition of the heart of MLD families as a whole.

Ultimately, I am encouraged. Things are happening for MLD, research is being done. Not as fast as I would like, but at least it is progress. Maybe, just maybe, our hope of a cure is coming….

Earlier last month we had the opportunity to see several presentations about the Leukodystrophy Center of Excellence (CoE) at Children’s Hospital of Philadelphia(CHOP), which opened today, May 1st.

The mission of the [CHOP Leukodystrophy CoE] center is “to deliver cutting-edge, integrated, multidisciplinary clinical care, diagnostic evaluation, and therapeutics to infants, children and youth with inherited white matter disease.”

We are excited about the multi-disciplinary approach of collaborative and comprehensive care this center is now providing for leukodystrophy patients and families. Under the directorship of Dr. Amy Waldman, care plans are being developed by teams of specialists, with a designated CHOP care coordinator and extensive family/caregiver involvement. The CHOP team will include a standard suite of specialists and will include additional experts from other CHOP specialties who will come and go as situations arise. Appointments and treatments will be consolidated into one day’s visit, where possible, so families don’t have to make multiple trips to the CoE thereby improving the scope of care and reducing the burden on families and patients. We are planning to have representatives from CHOP come and present at our MLD Family Conference™ in Delaware this July. We also hope to hear 1st hand reports from Philly area families about the CHOP CoE.

MLD Foundation is an avid supporter of helping these existing centers work more closely together to improve patient care for all the leukodystrophies and to improve how network and clinical data is gathered, shared, and studied to improve care, advance understanding, and expedite therapies. This will require helping the centers to work more closely, establishing common methodologies, expanding their capabilities to serve all leukodystrophies, and putting more uniformity and structure into the clinical care and research strategies. As resources become available the program can be expanded to include CoE’s in other parts of the country so every leukodystrophy family has a CoE close to them.

We are actively working with GLIA (Global Leukodystrophy Initiative – a two-year old international collaboration of leukodystrophy clinical and research experts), industry pharma partners, advocacy groups, and other MLD experts to develop standards of care, registries for common data collection, resource directories, access to experts, training and awareness, and maybe even provide some seed funding to help new centers to launch. Imagine if these experts were able to implement CoE’s for leukodystrophies at all of their home medical centers – what a powerful and accessible clinical care and research force that network would be.

MLD Foundation’s OpenNHS Manifesto offers a peek into how we think pre-clinical Natural History Study collaborations should operate. We’re thinking the CoE picture should have similar overriding and undergirding principles. Maybe an OpenCoE Manifesto is in order?

recognizes the importance of NHS to better understand the disease and as a baseline to determine efficacy and obtain regulatory approval of new therapies.

calls for the NHS study team to be well-informed about MLD and to give back to the participants ideas and insight into improving the participants quality of life and ongoing clinical care.

calls for study sponsors to collaborate pre-clinically up front with other researchers and industry to design a study that meets the sponsor’s needs as well as reasonably anticipated future needs

calls for study data to be open and accessible as raw data (in its entirety) to future researchers. The Manifesto recognizes that some limited time protection may be necessary to honor publishing and IP rights.

At the DC meeting there was extensive discussion and sharing of perspectives and concerns about openNHS from many points of view.

We are pleased to report the meeting was a success on all fronts! MLD Foundation, on behalf of those affected with MLD and the ongoing research community, was able to facilitate full support of the Manifesto and will be working with MLD collaborators in general, as well as Shire as sponsor of the current US late infantile NHS, to implement the Manifesto on current and future MLD Natural History Studies.

We look forward to sharing more specifics about what this means to MLD families and NHS study participants in the near future.

We will also be sharing our success with other advocacy groups with the hope that they too can call for openNHS in their communities.

The Enzyme Replacement Therapy HGT-1110 Phase I/II clinical trial has been fully recruited. Patients are participating from three continents; Europe, South America, and Australia.

The primary purpose of a Phase I/II clinical trial is to study safety and to establish a target dosage for further study.

The trial lasts 40-weeks so the last patient should complete their primary end point in March 2015 or thereabouts. Allowing 3-4 months for data analysis and review, there might be some results reported Summer 2015.

Great Patient Focused Drug Development (PFDD) meeting at the FDA Tuesday discussing patients perspective on the neurological inborn errors of metabolism (IEM). Dean Suhr, president of the MLD Foundation, spoke on the second panel of the day and was able to both share and stir the pot a bit with regard to some of the patient perspectives on what we want in therapies, risk/benefit, access to trials in the US, compassionate/named access, patient reported outcomes, and consent. It’s not all about statistics and biochemistry – we have life to live!

View from the panel of ½ of the audience of advocates, families, researchers, and industry at the FDA PFDD meeting on IEM.

Also met the Medical Officer at the FDA assigned to gene therapy and made sure she talked to Becky Vivian, a MLD mom who was there with her kids Eli and Ella showing the remarkable results from the Italian gene therapy clinical trial.

The Vivian family – both kids had the Italian Gene Therapy and are on no post-transplant drugs. They, and the rest of the trial participants, are doing great.

In the next couple of days we’ll be sharing how to add your voice to the formal written docket for this meeting. This is our opportunity for the MLD community to be heard so we hope for many of you to share.

A MLD grandmother was also present – we had a great talk. Turns out she is a researcher and has done some work at the NIH. She wants to work with us … and you … to write a paper on bone marrow transplant outcomes. We’ll have more to share on that soon too.

A new Natural History Study (NHS) for MLD was launched a few weeks ago. We have taken the bold step of recommending that families NOT participate in this study … for now:

It is our belief that all natural history studies be OPEN access, meaning the study data be maximized by being made available to other researchers from other academic institutions and companies, and be as collaborative as possible. Properly designed studies will protect your privacy while maximizing the use of your data to facilitate longevity in MLD research.

In our opinion this new NHS does not adequately meet this criteria. We are (February 2014) in discussions with the study sponsors to address these concerns.

This study is the fourth NHS that we are aware of for MLD and was launched by a long-standing pharmaceutical partner and MLD collaborator, Shire. We want to be clear that our don’t participate for now recommendation is not a Shire specific issue nor is Shire resisting discussing our concerns. Further, this “not participate” stance is not because there are any fundamental scientific problems with the study, rather it’s that we want to optimize the value, usefulness, and knowledge gained from this rare disease Natural History Study for the researchersand for the patients.

We are actively working to bring the MLD community of Shire, GSK, Biomarin, several academic institutions, several other advocacy groups, and even some local treating clinicians together in the next month or two to collaboratively work on the following concerns and requests so we can get back to helping recruit for this study.

We are asking for two things before we encourage families to participate in this, or any other Natural History Study …

OPEN collaborative Natural History Studies … meaning that the study is designed collaboratively and all ofthe the collected RAW data is made available openly to all future researchers.

MLD natural history studies are invasive and painful for the child who participates (nerve conduction and Lumbar Puncture/Spinal Taps). They also require a commitment that significant time and energy be put forth by families to make the repeat their visits to the study center knowing that they will not be receiving any therapy clinical trial access, i.e. they are giving to hopefully help the next generation of patients, not their own children.

Today, the current practice is one company designs their own NHS, collects and silos the raw data, uses the data for their application with the FDA, and then publishes the highlights. Since only the summary data is published, the next company has to start from scratch with their own new study, engaging & testing more patients, etc. That requires twice as many patients, twice as much patient sacrifice, twice as much cost, and perhaps twice as much time. We don’t have a large enough community or enough time to double and triple dip – in fact, yesterday we lost another MLD patient, the 9th we know of this year.

The results from natural history studies are necessary for a new FDA/EMA therapy approval applications,however, these patients are untreated so their data is independent of any particular therapy. Hence a NHS, just like developing a newborn screen, is a matter of common concern, not competitive advantage.

We are asking that Natural History Studies be collaboratively designed, collaboratively implemented, and all RAW data (not just the published summaries) be available for any researcher to access for any future study. This collaborative approach will likely involve cost sharing as well so it’s complicated to set up but this approach allows us to gather the data as efficiently and as quickly as possible – while optimizing the “use” of the patient community.

Give back to the patients/families with each NHS study visit … give the families information to take home after each visit to help them improve quality of life for their loved ones.

The NHS study centers have experts in gathering the NHS data, however, while they may understand lysosomal disease or leukodystrophies in general, they are generally not currently providing any direct MLD clinical feedback to the patients.

We already have a model for this in our community, the NDRD in Pittsburgh. In fact, families visit and re-visit the NDRD from literally across the country for the clinical expertise and are then recruited into the natural history studies. The NDRD has become a source of expertise and clinical support for many similar rare diseases. They give clinical recommendations to the family to improve day to day quality of life and also become a medical resource for the local treating care team in the family’s home town.

We are asking that each study center be equipped to be a Center of Excellence for MLD where they can, and do, provide clinical expertise with each visit in addition to gathering the specific NHS data. This approach, as has been demonstrated by the NDRD, is a model that works for research and the families.

We are working to develop a Standard of Care for MLD to further support these clinical Center of Excellence goals and the local treating physicians when they go back home.

To our knowledge, no patients have been recruited for this specific Natural History Study. We hope to impact the collaborative and clinical nature of how the study proceeds before any patients are enrolled, and frankly do not think these requests will impact the core study design in any significant ways. As we all know, once patients are enrolled and data gathering momentum is established, change becomes more difficult.

We have excellent contact and influence with the MLD families worldwide. We are using this position and those relationships to try to affect a fundamental change in how Natural History Studies are implemented for MLD and for all rare diseases.

It is very bold to take this sort of position publicly – but it’s our moral responsibility to stand up for the patients. We firmly believe this “patient-first” while “optimizing research” stance is optimal for patients and researchers.

If your organization supports this philosophy for OPEN Natural History Studies please comment here and then email us to let us know. Advocacy groups can be the catalyst for these changes.